Sample: 17302

Panell: colon

ExomeDepth

ExomeDepth is a R package designed to detect inherited copy number variants (CNVs) using whole exome data (WES) and smaller multi-gene panels. ExomeDepth uses read depth data to call CNVs i.e. it compares the number of reads for a given region with the number of reads of a an aggregate reference set.

Two parameters are provided with the CNV call:

Result table

Non-covered exons

This table shows the non-covered regions: the test sample (observed) or the reference sample (expected) have 0 reads in the target region

General view

Reads ratio by exon and gene